ArticleJournal of medical genetics1998
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed.
- Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.Clinical genetics · 2026Article
- Nephrocalcinosis in a Child with Sotos Syndrome: A Case Report of Contiguous Gene Syndrome EncompassingJournal of clinical medicine · 2025Article
- A Fast, Reproducible, High-throughput Variant Calling Workflow for Population Genomics.Molecular biology and evolution · 2024Article
- Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature ReviewJournal of clinical research in pediatric endocrinology · 2022Article
- Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1.American journal of medical genetics. Part A · 2022Article
- Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype.Frontiers in genetics · 2021Article
- Multidisciplinary Management of Alport Syndrome: Current Perspectives.Journal of multidisciplinary healthcare · 2021Review
- Acyl-CoA synthetases as regulators of brain phospholipid acyl-chain diversity.Prostaglandins, leukotrienes, and essential fatty acids · 2020Review
- Deletion in mice of X-linked, Brugada syndrome- and atrial fibrillation-associated Kcne5 augments ventricular KFASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- Article
- X inactivation testing for identifying a non-syndromic X-linked mental retardation gene.Journal of applied genetics · 2011Article
- Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23.Pediatric nephrology (Berlin, Germany) · 2009Article
- Prediction of human disease genes by human-mouse conserved coexpression analysis.PLoS computational biology · 2008Article
- X linked mental retardation: a clinical guide.Journal of medical genetics · 2006Review
- A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.Journal of medical genetics · 2003Article
- KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current.Biophysical journal · 2002Article
- Characterisation and genetic mapping of a new X linked deafness syndrome.Journal of medical genetics · 2000Article
- Deacylation and reacylation of neural membrane glycerophospholipids.Journal of molecular neuroscience : MN · 2000Review
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
We describe a family with four members, a mother, two sons, and a daughter, who show clinical features consistent with X linked Alport syndrome. The two males presented with additional features including mental retardation, dysmorphic facies with marked midface hypoplasia, and elliptocytosis. The elliptocytosis was not associated with any detectable abnormalities in red cell membrane proteins; red cell membrane stability and rigidity was normal on ektacytometry. Molecular characterisation suggests a submicroscopic X chromosome deletion encompassing the entire COL4A5 gene. We propose that the additional abnormalities found in the affected males of this family are attributable to deletion or disruption of X linked recessive genes adjacent to the COL4A5 gene and that this constellation of findings may represent a new X linked contiguous gene deletion syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.